Hereditary cardiomyopathies include a diverse spectrum of myocardial disorders characterized by mechanical and electrical abnormalities, among which hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are distinguished. This paper dives into the genetic foundations of these conditions, with a focus on mutations in genes encoding sarcomere proteins, thin filament proteins, and calcium homeostasis regulators. The familial aggregation of cardiomyopathies underscores the substantial genetic component, with autosomal dominant inheritance patterns predominant in some cases. Genetic testing and counseling emerge as pivotal tools for early diagnosis, risk assessment, and the formulation of personalized treatment strategies. The integration of genetic insights into clinical management holds promise for improving patient outcomes and reducing disease burden. Further analysis of the molecular mechanisms underlying hereditary cardiomyopathies is critical for identifying novel therapeutic targets and advancing precision medicine approaches. By comprehensively exploring the genetic underpinnings of cardiomyopathies, this paper contributes to our understanding of these complex diseases and highlights the potential for innovative interventions to enhance patient care in the field of cardiovascular medicine.
This case report describes a diagnosis of Paget-Schroetter syndrome in a man in his 50s with a network of small veins in the left infraclavicular region discovered after unsuccessful left subclavian vein puncture.
Atrial fibrillation is the most commonly experienced type of cardiac arrhythmia and is the most associated with substantial clinical occurrences and expenses. This arrhythmia often occurs in its "silent" asymptomatic form, revealed only after complications such as a stroke or congestive heart failure have transpired. New smart devices confer effective advantages in the detection of this heart arrhythmia, of which photoplethysmography-based smart devices have shown great potential, according to previous research. However, the solution becomes a problem as widespread use and high availability of various applications and smart devices may lead to substantial amounts of false and misleading recordings and information, causing unnecessary anxiety regarding arrhythmic occurrences diagnosed by the devices but not professionally confirmed. Thus, with most of the devices being photoplethysmography based for detection of atrial fibrillation, it is important to research devices studied up to this point to find the best smart device to detect the aforementioned arrhythmias.
Postural orthostatic tachycardia syndrome (POTS) is a chronic, debilitating condition characterized by heterogeneous symptoms, such as lightheadedness, palpitations, pre-syncope, syncope, and weakness or heaviness, especially of the legs. It is frequently associated with hypermobile joints or conditions such as chronic fatigue syndrome, chronic abdominal pain, migraine headache, and diabetes mellitus. Described is a case of POTS, which though it is not rare, is rarely diagnosed. It can be diagnosed quickly with simple methods.
:- The most commonly experienced cardiac arrhythmia and the most associated with significant clinical occurrences and expenses is Atrial fibrillation (AF) . Predominantly Due to advances in diagnosis methods, AF has been reported a greater and increasing frequency. By 2030, 14 – 17 million AF cases are anticipated in the European Union, with 120 000 – 215 000 newly diagnosed patients per year. Estimates suggest approximately 3% of adults aged 20 years or older are likely of contracting the condition. AF is independently associated with a two-fold a doubly increased risk of all-cause mortality in women and a 1.5-fold increase in men. The silent form of AF is incidentally diagnosed during routine physical examinations, pre-operative assessments, or population surveys. Unfortunately,, in certain cases, silent AF is revealed only after complications such as a stroke or congestive heart failure have transpired. New smart devices present impactful advantages in the detection of this cardiac arrhythmia. However, the widespread use of these devices, and the large number of free apps with varying degrees of certification, may lead to a great amount of misleading information causing anxiety about arrhythmic occurrences diagnosed by the devices but not professionally confirmed. The possibility of illegitimate or inaccurate results causing panic in the general population would merely convert a solution into a problem. Therefore, it is important to find the best smart device for detection of atrial fibrillation.
Objective – The aim of this article is to present a case of POTS, which was diagnosed quickly with Holter ECG and whose symptoms improved promptly and dramatically with non-pharmacological therapy. Case Presentation – A 15-year-old female patient mother was admitted because of unusual episodes of dizziness, syncope with spontaneous recovery and palpitations. Most of these symptoms occurred fairly frequently on standing. The Holter ECG was done with recommendation to perform some activities during recording, such as to stand for ten minutes in the presence of another person and to write symptoms. It was noticed on the Holter ECG that she had increase in heart rate more than 60 beats per minute during these ten minutes followed by symptoms. The patient was diagnosed with POTS and nonpharmacological therapy was advised which was successful. Conclusion – POTS is a disabling condition with heterogeneous and atypical symptoms which mostly affects the young females. Sometimes, a long period of time is necessary to diagnose POTS. Therefore, it is important to diagnose quickly and to start with appropriate therapy which is unique for every POTS patient. Delay in diagnosis and treatment can lead to further disability in patients affected by POTS and their poor quality of life.
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